Canonical Allele Identifier: CA602136299

Gene: APOA5

Linked Data

• dbSNP Id: rs1395287590
• gnomAD v2: 11-116660916-A-ACGGGCCTGCAGCTTGCTCAGAACCTTGC
• gnomAD v4: 11-116790200-A-ACGGGCCTGCAGCTTGCTCAGAACCTTGC
• MyVariant Identifiers: chr11:g.116660916_116660917insCGGGCCTGCAGCTTGCTCAGAACCTTGC (hg19) ; chr11:g.116790200_116790201insCGGGCCTGCAGCTTGCTCAGAACCTTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790202_116790229dup , CM000673.2:g.116790202_116790229dup	GRCh38
NC_000011.9:g.116660918_116660945dup , CM000673.1:g.116660918_116660945dup	GRCh37
NC_000011.8:g.116166128_116166155dup	NCBI36
NG_015894.1:g.7193_7220dup
NG_015894.2:g.7193_7220dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000227665.9:c.1001_1028dup MANE Select	ENSP00000227665.4:p.Leu344GlnfsTer12
ENST00000433069.2:c.1001_1028dup	ENSP00000399701.2:p.Leu344GlnfsTer12
ENST00000673688.1:c.1085_1112dup	ENSP00000501141.1:p.Leu372GlnfsTer12
ENST00000227665.8:c.1001_1028dup	ENSP00000227665.4:p.Leu344GlnfsTer12
ENST00000542499.5:c.1001_1028dup	ENSP00000445002.1:p.Leu344GlnfsTer12
NM_001166598.1:c.1001_1028dup	NP_001160070.1:p.Leu344GlnfsTer12
NM_052968.4:c.1001_1028dup	NP_443200.2:p.Leu344GlnfsTer12
NM_001166598.2:c.1001_1028dup	NP_001160070.1:p.Leu344GlnfsTer12
NM_001371904.1:c.1001_1028dup MANE Select	NP_001358833.1:p.Leu344GlnfsTer12
NM_052968.5:c.1001_1028dup	NP_443200.2:p.Leu344GlnfsTer12